Canonical Allele Identifier: CA6311627

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1301338
• ClinVar RCV Id: RCV001733377
• dbSNP Id: rs782612223
• ExAC: 11:118895894 CACTT / C
• gnomAD v2: 11-118895894-CACTT-C
• gnomAD v4: 11-119025184-CACTT-C
• MyVariant Identifiers: chr11:g.118895895_118895898del (hg19) ; chr11:g.119025185_119025188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025187_119025190del , CM000673.2:g.119025187_119025190del	GRCh38
NC_000011.9:g.118895897_118895900del , CM000673.1:g.118895897_118895900del	GRCh37
NC_000011.8:g.118401107_118401110del	NCBI36
NG_013331.1:g.10718_10721del , LRG_187:g.10718_10721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1333+3_1333+6del (SLC37A4)
ENST00000697845.1:n.2322+3_2322+6del (SLC37A4)
ENST00000697846.1:n.1695+3_1695+6del (SLC37A4)
ENST00000697847.1:n.1406+3_1406+6del (SLC37A4)
ENST00000697849.1:n.3799+3_3799+6del (SLC37A4)
ENST00000697850.1:n.1990+3_1990+6del (SLC37A4)
ENST00000697851.1:n.2961+3_2961+6del (SLC37A4)
ENST00000638186.1:n.1427+3_1427+6del (SLC37A4)
ENST00000638360.1:n.1259+3_1259+6del (SLC37A4)
ENST00000638925.1:n.1392+3_1392+6del (SLC37A4)
ENST00000650539.1:n.1595+3_1595+6del (SLC37A4)
ENST00000330775.9:c.1123+3_1123+6del (SLC37A4)	ENSP00000476242.2:n.1123+3_1123+6del
ENST00000357590.9:c.1189+3_1189+6del (SLC37A4)	ENSP00000476176.2:n.1189+3_1189+6del
ENST00000524428.5:n.1359+3_1359+6del (SLC37A4)
ENST00000525039.5:n.1613+3_1613+6del (SLC37A4)
ENST00000525102.5:n.1881+3_1881+6del (SLC37A4)
ENST00000525372.5:n.1221+3_1221+6del (SLC37A4)
ENST00000526275.5:n.1905+3_1905+6del (SLC37A4)
ENST00000527992.5:n.1351+3_1351+6del (SLC37A4)
ENST00000529510.5:n.814_817del (SLC37A4)
ENST00000530407.5:n.1273+3_1273+6del (SLC37A4)
ENST00000532085.1:n.5141+3_5141+6del (SLC37A4)
ENST00000533058.5:c.*138_*141del (TRAPPC4)	ENSP00000432920.1:n.*138_*141del
ENST00000538950.5:c.904+3_904+6del (SLC37A4)	ENSP00000475991.2:n.904+3_904+6del
ENST00000545985.5:c.1123+3_1123+6del (SLC37A4)	ENSP00000475241.2:n.1123+3_1123+6del
NM_001164277.1:c.1123+3_1123+6del , LRG_187t1:c.1123+3_1123+6del (SLC37A4)	NP_001157749.1:n.1123+3_1123+6del
NM_001164278.1:c.1189+3_1189+6del (SLC37A4)	NP_001157750.1:n.1189+3_1189+6del
NM_001164279.1:c.904+3_904+6del (SLC37A4)	NP_001157751.1:n.904+3_904+6del
NM_001164280.1:c.1123+3_1123+6del (SLC37A4)	NP_001157752.1:n.1123+3_1123+6del
NM_001467.5:c.1123+3_1123+6del (SLC37A4)	NP_001458.1:n.1123+3_1123+6del
NM_001164278.2:c.1189+3_1189+6del (SLC37A4)	NP_001157750.1:n.1189+3_1189+6del
NM_001164279.2:c.904+3_904+6del (SLC37A4)	NP_001157751.1:n.904+3_904+6del
NM_001164280.2:c.1123+3_1123+6del (SLC37A4)	NP_001157752.1:n.1123+3_1123+6del
NM_001467.6:c.1123+3_1123+6del (SLC37A4)	NP_001458.1:n.1123+3_1123+6del
NM_001164277.2:c.1123+3_1123+6del (SLC37A4) MANE Select	NP_001157749.1:n.1123+3_1123+6del